rs151206121

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	6	Friedreich's ataxia
(-;TGGG)	3	carrier of a Friedreich's ataxia allele
(TGGG;TGGG)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

9

Position

69053257

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs151206121
dbSNP (classic)	rs151206121
ClinGen	rs151206121
ebi	rs151206121
HLI	rs151206121
Exac	rs151206121
Gnomad	rs151206121
Varsome	rs151206121
LitVar	rs151206121
Map	rs151206121
PheGenI	rs151206121
Biobank	rs151206121
1000 genomes	rs151206121
hgdp	rs151206121
ensembl	rs151206121
geneview	rs151206121
scholar	rs151206121
google	rs151206121
pharmgkb	rs151206121
gwascentral	rs151206121
openSNP	rs151206121
23andMe	rs151206121
SNPshot	rs151206121
SNPdbe	rs151206121
MSV3d	rs151206121
GWAS Ctlg	rs151206121

Max Magnitude

6

rs151206121, also known as c.381_384 delTGGG_+_c.384_+_1__+_9 delGTACCTCTT or , is a mutation in the FXN gene on chromosome 9.

The deletion is associated with Friedreich's ataxia when inherited in two copies or as a compound heterozygote.

ClinVar
Risk
Alt
Reference	Rs151206121(TGGG;TGGG)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71668173_71668176delTGGG
CLNSRC
CLNACC

[PMID 9339708] Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.